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JAM2

Chr 21q21.3

junctional adhesion molecule 2

Aliases:
VE-JAM, JAM-B, JAMB, CD322, JAM-2
MANE:
ENST00000480456.6

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intracerebral calcification disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Adult onset neurodegenerative disorder

    BIALLELIC, autosomal or pseudoautosomal
  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary ataxia with onset in adulthood

    BIALLELIC, autosomal or pseudoautosomal
  • White matter disorders and cerebral calcification - narrow panel

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • basal ganglia calcification, idiopathic, 8, autosomal recessive

    0.69
  • bilateral striopallidodentate calcinosis

    0.38
  • ovarian dysfunction

    0.29
  • respiratory tract infectious disorder

    0.28
  • hereditary disease

    0.19
  • osteoarthritis, knee

    0.17
  • lymphatic system disorder

    0.14
  • vein disorder

    0.14
  • sialolithiasis

    0.11
  • hypothyroidism

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Junctional adhesion molecule B

Junctional adhesion protein that mediates heterotypic cell-cell interactions with its cognate receptor JAM3 to regulate different cellular processes (PubMed:11590146, PubMed:11823489, PubMed:24357068). Plays a role in homing and mobilization of hematopoietic stem and progenitor cells within the bone marrow (PubMed:24357068). At the surface of bone marrow stromal cells, it contributes to the retention of the hematopoietic stem and progenitor cells expressing JAM3 (PubMed:11590146, PubMed:24357068). Plays a central role in leukocytes extravasation by facilitating not only transmigration but also tethering and rolling of leukocytes along the endothelium (PubMed:12239159). Tethering and rolling of leukocytes are dependent on the binding by JAM2 of the integrin alpha-4/beta-1 (PubMed:12070135). Plays a role in spermatogenesis where JAM2 and JAM3, which are respectively expressed by Sertoli and germ cells, mediate an interaction between both cell types and play an essential role in the anchorage of germ cells onto Sertoli cells and the assembly of cell polarity complexes during spermatid differentiation (By similarity). Also functions as an inhibitory somatodendritic cue that prevents the myelination of non-axonal parts of neurons (By similarity). During myogenesis, it is involved in myocyte fusion (By similarity). May also play a role in angiogenesis (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.